Isabella Wimplinger
Universität Hamburg(DE)Universitat de València(ES)University Medical Center Hamburg-Eppendorf(DE)
Publications by Year
Research Areas
Ocular Disorders and Treatments, melanin and skin pigmentation, Hedgehog Signaling Pathway Studies, Genetic and rare skin diseases., Fetal and Pediatric Neurological Disorders
Most-Cited Works
- → Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum(2008)285 cited
- → Mutations of the Mitochondrial Holocytochrome c–Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome(2006)161 cited
- → Mother and daughter with a terminal Xp deletion: Implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome(2007)58 cited
- HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?(2007)
- → Phenotypes of female adrenoleukodystrophy(2007)28 cited
- → Inhibition of aldehyde dehydrogenase type 2 attenuates vasodilatory action of nitroglycerin in human veins(2008)25 cited
- → Erratum: Corrigendum: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum(2008)5 cited
- Molekulargenetische Charakterisierung von Patienten mit dem MLS-Syndrom : Identifizierung des ursächlichen Krankheitsgens(2008)